ClinVar Miner

Submissions for variant NM_021224.6(ZNF462):c.507C>A (p.Tyr169Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute RCV003448889 SCV004176713 pathogenic Weiss-Kruszka syndrome 2023-12-04 criteria provided, single submitter clinical testing

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